OBO ID: DOID:0080308
Term Name: myofibrillar myopathy 8 Search Ontology:
Synonyms:
Definition: A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12. (2)
References:
Ontology: Human Disease   (DOID:0080308)
OTHER myofibrillar myopathy 8 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PYROXD1 Myopathy, myofibrillar, 8 617258
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None